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Article

Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2.

Investigative ophthalmology & visual science - 1 Mar 2011

Volkmann Bethany A, Zinkevich Natalya S, Mustonen Aki, Schilter Kala F, Bosenko Dmitry V, Reis Linda M, Broeckel Ulrich, Link Brian A, Semina Elena V

Abstract excerpt

PURPOSE: Mutations in PITX2 are associated with Axenfeld-Rieger syndrome (ARS), which involves ocular, dental, and umbilical abnormalities. Identification of cis-regulatory elements of PITX2 is important to better understand the mechanisms of disease. METHODS: Conserved noncoding elements surrounding PITX2/pitx2 were identified and examined through transgenic analysis in zebrafish; expression pattern was studied...

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Share to Anterior Eye Segment

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Eye Diseases, Hereditary

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Share to Homeobox Protein PITX2

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Share to Regulatory Elements, Transcriptional

Source

Open in PubMed Open full text

Identifiers

PMID: 20881290
DOI: 10.1167/iovs.10-6060
PMCID: PMC3101680

Genes

PITX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2.PMID 20881290Read ↗

Deletions of distant regulatory sequences upstream of zebrafish <i>pitx2</i> result in a range of ocular phenotypesSemantic proximity Read ↗

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